• Spine · Apr 2019

    Replication Study for the Association of GWAS-associated Loci with Adolescent Idiopathic Scoliosis Susceptibility and Curve Progression in a Chinese Population.

    • Gene Chi-Wai Man, Nelson Leung-Sang Tang, Ting Fung Chan, Tsz Ping Lam, Jing Woei Li, Bobby Kin-Wah Ng, Zezhang Zhu, Yong Qiu, and Jack Chun-Yiu Cheng.
    • SH Ho Scoliosis Research Laboratory, Department of Orthopaedics and Traumatology, Faculty of Medicine, The Chinese University of Hong Kong, The Prince of Wales Hospital, Shatin, Hong Kong SAR.
    • Spine. 2019 Apr 1; 44 (7): 464471464-471.

    Study DesignA genetic association (replication) study.ObjectiveThe aim of this study was to replicate and further evaluate the association among seven genome-wide association studies (GWAS)-identified single nucleotide polymorphisms (SNPs) in Chinese girls with adolescent idiopathic scoliosis (AIS) with disease onset, curve types, and progression.Summary Of Background DataAIS is the most common pediatric spinal deformity with a strong genetic predisposition. Recent GWAS identified 10 new disease predisposition loci for AIS.MethodsThree hundred nineteen female AIS patients with Cobb angle ≥ 10 and 201 healthy controls were studied for the association with disease onset. Seven GWAS-identified SNPs (rs11190870 in LBX1, rs12946942 in SOX9/KCNJ2, rs13398147 in PAX3/EPH4, rs241215 in AJAP1, rs3904778 in BNC2, rs6570507 in GPR126, and rs678741 in LBX1-AS1) were analyzed. In subgroup analysis, AIS patients were subdivided by curve types and disease progression to examine for genotype association.ResultsWe replicated the association with disease onset in four common SNPs rs11190870, rs3904778, rs6570507, and rs678741. In addition, rs1190870 and rs678741 remained significantly associated in the right thoracic curves only subgroup. However, no significant difference was observed with both clinical curve progression or Cobb angle.ConclusionThis study replicated the associations of four GWAS-associated SNPs with occurrence of AIS in our Chinese population. However, none of these SNPs was associated with curve severity and progression. The results suggest that curve progression may be determined by environmental (nongenetic) factor, but further study with a larger sample size is required to address this issue.Level Of Evidence4.

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